17 May 2012

Thankful Thursday - I Passed the Test! DNA Results...

Just when I thought my string of amazing discoveries during NGS 2012 week would be coming to an end, I received confirmation that my 23andme DNA test results were in! After following the link in the email they sent, I did find out that my ancestor results will not be available for approximately another week. Boo.

However, as I was perusing my health results, a number of things leapt off the page at me, and so I thought I'd share them here. I'm still trying to do deeper research on what this is all about, so if I say something materially incorrect, please don't hesitate to correct me in Comments.

Unless noted otherwise, all information is from the 23andme website. First: I am part of the J2a1a haplogroup. This group originated in the Arabian peninsula (Iraq, Iran, Syria) with a migration going into Europe about 7,000 years ago. My ancestry results are as follows: Dutch, German, Spanish and Italian. This group may have entered Britain with invading Anglo-Saxons.

Of course, when I first saw the "Dutch" part of this I had a bit of an 'a ha!' moment. But being quickly followed by "German" means I still have a LOT of research to do. I believe that the Dutch part of this simply confirms one aspect of my dual pronged approach: I'd had a theory that my (now) Dutch ancestor was actually Germanic/French and that he'd gone to the Netherlands for safety reasons. I now have resolved that theory with the DNA proof of my Dutch heritage: he was in fact from Utrecht as his documents state. So, I now will focus my search there, rather than attempting to locate a line in the Alsace-Lorraine area for him. I will continue my research in Alsace-Lorraine for the other lines that are proved in that area.

Beyond this general knowledge, I will have to wait for my 'Ancestry' results. That wasn't the really interesting part of my results. The health factors section was what really caught my attention. The DNA results got my height, general weight, hair, eye color and blood type right. That alone made me feel like I'd passed the test. Then I started looking at other health factors and risks and I was surprised by two things.

Number one: My DNA suggests that my concern over the autoimmune diseases Rheumatoid Arthritis and Lupus (Systemic Lupus Erythematosus) were well founded. I'd had an RA factor test done 10 years ago that showed I was 'borderline' for the disease, though I didn't show any symptoms. However, I began having a variety of challenging physical symptoms that taken separately seemed more annoying at the least, but downright debilitating at the worst. Stress elevated my symptoms. Two years ago things got so bad that I called my Hematologist/Oncologist and asked if he'd look at my case (I had no medical insurance at the time). I told him I had a relative, a cousin on my mother's side, who'd suffered from Lupus. While he wouldn't/couldn't confirm anything without seeing me or doing appropriate medical tests, he did indicate that my symptoms were indicative of this disorder.

What did my DNA test results say? That I have a decreased risk for Rheumatoid Arthritis! When I saw that, I thought, "wow, did they get THAT wrong." Until I saw my 'Elevated' risk factors. Yep. Lupus. Which is extremely complex and difficult to diagnose because it is often mistaken for rheumatoid arthritis. This would explain my significantly increased pain levels starting several months ago, which coincided with increased stress in my life. Lupus is highly affected by stress, and keeping stress levels low can mitigate some of the symptoms. I hadn't realized how much the pain was affecting me until I found a combination of medicines that reduced it significantly. A DNA test is NOT a medical diagnosis. However, it certainly will assist in my future planning for my medical needs.

Number Two: Where are the blood clotting disorders? I think this was the main reason that I was awarded the test for free through OpenSNP. They'd received grant money to provide free 23andme DNA tests to individuals who would share their results with OpenSNP. I sent in an application and was notified that I was one of the recipients of a free test. My application stated that I was a 'last leaf'; I have no children and neither does my brother. However, I have a congenital blood clotting disorder, Protein-S deficiency, that there is very little medical research available for and I felt as a carrier of this disorder that I might be helping others by capturing my DNA. While 23andme has Factor XI (hemophilia) covered, there are really no other blood disorders that are adequately described. Hmmm. I can post in the Community, and will, to find out if there are others out there. But this just confirms what I already knew: that congenital blood disorders are sorely lacking in adequate medical research resources.

So, there you have it. It ain't sexy or fun, but 'it is what it is'. Am I glad I took the test? You bet. I can't WAIT to get my ancestry results so I can start poking around there. In the meantime, my specialist is getting a copy of my results so they'll be in my medical record. Here's to long and healthy life!

I kept my expectations low; so far I've been very happy with the experience. I did get my Ancestor matches over the weekend, so we'll see if I 'match' with anyone. I realized I don't have a complete maternal line, so I'll be researching that next!

I've had multiple mitochondrial DNA tests before because we have a rare mitochondrial disease called MELAS that runs strongly in my family, which is what my brother [biologically my nephew] died from and is what my mother, one of my sisters, 3 nieces and a nephew suffer from. It's rarely diagnosed and has so many symptoms because mitochondria are all over and there's varying degrees of it. Even I have a very small amount right now, and it may never get any worse for me.

I can remember my brother's first follow up visit after his very first long hospital battle/stay. And they constructed a family medical tree in his chart notating everyone's symptoms. I remember just staring at it. Not the best of circumstances to make a family tree. Right?

Our family geneticist is awesome and he does awesome medical research, but there aren't enough doctors like him. And it'll be nice when one day no one has to say the phrase, "my family geneticist."

Have you looked online somewhere for a forum or group for the particular disorder that you are a carrier of? Might be interesting to see if there are others that way who have started a group. Even though ours is extremely rare, there a few groups. Just a suggestion.

So, kudos to you for participating in the study. Your contribution will definitely help someone down the road. You can count on that. And there will be a family somewhere thanking you for it.

Thank you for sharing, Caroline, and you have my condolences for the loss of your brother. I've lurked around on some of the boards, but suspect I'll become more active. My biggest concern now is that I was told I could NOT have children, period. All these years later I'm learning that there were plenty of ways that my disorder could've been managed, and that perhaps there may not even be decent research that supports being on drug therapy. It's like a sliver under my skin, knowing that I might have been able to have the family I wanted, and blindly followed my docs advice, which I rarely do. So, I just hope that somewhere done the line someone benefits from my lesson.

For the Ancestry side - it definitely takes some serious work to use one's 23andme matches to figure things out. I thought my own results would be a simple exercise as I am 50/50 Czech & Irish with (mostly) known locations leading back to the early 1800s in each country.

But, I've got potential 5th cousins all over the place - and Germany shows up quite often.Drat you Austro-Hungarian Empire! (Fist shake).

I've also found that one of my 100% Irish 23andme cousins appears to have some of the Ukraine/Russian matches I do. What's up with that? I thought they were probably Czech side, but now I've got to rethunk it.

But, it is fun research and I'm betting that as the database of users grows it'll hit a critical mass where connections will be more easy to track. I just wish more people on Relative Finder were active AND more of the ones that are had family tree info there. Hard to compare with folks when they're entire profile consists of "Residence: US." ;)

Fast is right! One week for the medical DNA info and less than two for the ancestry part. Modern technology rocks!

My experience seems to mirror yours; I loved that "Dutch" came up first because I have a line through Utrecht. Then I realized it's not the 'right' line. Uh, hmmm...I've got a whole maternal line that I haven't researched...wanna guess which one it is?

I'm healthily skeptical of the cousin connections, but like that it's an option. I hope that more people use this as a tool in their genealogical search, but as you point out, it's not any more clear than an 1810 U.S. Census record for a John Smith. It's a starting point, but there are no guarantees.

Thank you for taking the time to read and comment...it's much appreciated!

Thanks so much for commenting, Cathy, and I'm so very glad that you like it! I've been a bit busy the last few weeks...have a lot to catch up on so there'll be a lot more coming soon. Have an awesome day!

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